Hemophilia was once a death sentence, but modern medicine has made advances in treatments for the genetic bleeding disorder

The Ward brothers are close, despite their age difference — Jadon is 17 and Roan is 8. They love to wrestle, play basketball, and watch TV together, but that’s not all they have in common. Both siblings were born with hemophilia, an inherited bleeding disorder in which the blood doesn’t clot properly. The disease goes back at least five generations in their mother’s family.

Hemophilia is caused by missing proteins called clotting factors that are needed to form blood clots. In its severe form, the disease causes spontaneous bleeding episodes, often into the joints and muscles. The disease is more common among men, affecting 1 in 5,617 baby boys, according to the U.S. Centers for Disease Control and Prevention.

“Untreated, severe hemophilia is debilitating and can be life-threatening,” said Leslie Raffini, medical director of the Hemostasis and Thrombosis Center at the Children’s Hospital of Philadelphia.

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Treatment requires replacing the missing clotting factors, typically through injections. Modern medicines that do not use human blood have dramatically improved patients’ ability to manage their care at home, enabled them to treat bleeding episodes sooner, and reduced their likelihood of developing other illnesses.

But the disease was once a death sentence: Patients were frequently hospitalized and subjected to blood treatments that exposed them to other blood-borne illnesses. As recently as the 1980s, about 70% of people with hemophilia contracted HIV.

“My grandmother was told her boys would live to be five years old,” said Melody Ward, Jadon’s and Roan’s mother.

Melody Ward’s father, Barry Baxter, learned he had hemophilia when he was two years old and got a scratch that bled for days in 1965. His twin brother, Andrew, was also positive. Another brother, born six years later, Gregory, was also diagnosed with hemophilia.

“There had been boys in the family who had bleeding problems, and later died, but no one knew what was wrong at the time,” said Ward, 40, who lives in Pine Hill with her husband Roshard and sons.

Barry lived until age 52 — he passed away in 2016 — but the disease took a toll on his body.

He needed two knee replacements from frequent internal bleeding episodes in his knee joints. He contracted hepatitis and HIV from treatments that predated modern protocol that protect patients from these blood-borne diseases.

“In Melody’s father’s time, people with hemophilia were often disabled, missed a lot of time from school and work, spent a lot of time in the hospital, and often were isolated from their community,” said Regina Butler, clinical manager for the division of hematology at CHOP. She treated Melody’s father and uncles, and now treats her sons.

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Melody’s mom, Barbara, contracted HIV from her husband and passed away in 1996, when she was 30 years old. Barry’s brothers also died from HIV they contracted through blood transfusions.

Treatment and care for people with hemophilia have dramatically improved since Butler began caring for Ward’s father and uncles. Back then, treatment could only be given once bleeding started.

In 1992, the FDA approved replacement protein factors that used a new technology that no longer contained any human or animal proteins that might cause infections. And by 1995, prophylaxis, a preventive treatment regimen performed 2-3 times weekly in children with hemophilia, became more common.

Jadon was diagnosed hours after his birth in 2006, by testing blood from his umbilical cord. He needed to visit CHOP three times a week for intravenous prophylaxis treatments for the first year of his life. The Wards were then trained in how to give him the medication at home, through IV infusions, which they continued every other day until he was 14.

That’s when a new product became available that allowed his parents to use a small hypodermic needle to insert the medicine into his muscle — similar to how insulin is given. And instead of three times a week, it could be given once every two weeks to prevent bleeding.

“Hemophilia isn’t like it used to be,” Ward recalled Butler, the hemophilia nurse, telling her after Jadon’s diagnosis. “She said, ‘We’ll make sure you have access to all of the information and everything you need and everything will be ok.’”

Nine years after Jadon’s birth, “Roan was a lovely surprise,” said Ward. Like his big brother, upon birth, he was diagnosed with hemophilia.

And there is more hope for the Wards, as the first gene therapy product for hemophilia B was approved at the end of last year, “and we anticipate that gene therapy for hemophilia A will be approved this year,” said Raffini, the CHOP hemophilia specialist. The treatment is currently approved for patients 18 years and older, “but we hope in the future to be able to treat children as young as 12 years old,” she said.

Although this genetic disorder is passed down from parents to children, about one third of cases have no previous family history. It starts from a new genetic mutation. When there is no family history, boys often present from bleeding after a circumcision or from unusual bruising, said Raffini.

Every daughter born to a father with hemophilia is a carrier. Daughters who have mothers who are carriers have a 50% chance of becoming a carrier, and sons of a carrier mother have a 50% chance of having hemophilia. Other women, who have no family history, may be carriers from new mutations.

Parents who learn their child has hemophilia — but who don’t know a known family history — should get genetic testing to determine if they are carriers, Raffini said.

Early diagnosis dramatically improves patients’ ability to manage the illness.

Jadon, a rising senior at Overbrook High School, is playing on his baseball team and fishing in his spare time. While he’d love to play football, he knows contact sports are too dangerous.

“I know my limits,” he said.

Roan is a very social rising third grader at John H. Glenn Elementary School, who enjoys playing on his phone and riding his bike with friends.

“My dad couldn’t even take gym class,” said Ward. “With medication, the boys are able to do physical activities that were unheard of in the ‘60s and ‘70s.”